Last Posted: Dec 07, 2019
- Expensive treatments for genetic disorders are arriving. But who should foot the bill?
Nature, December 2019
- Gene therapy is facing its biggest challenge yet
Nature, December 2019
- Association of Race With Disease Expression and Clinical Outcomes Among Patients With Hypertrophic Cardiomyopathy
LA Eberly et al, JAMA Cardiology, December 4, 2019
- Too many children live too far from sickle cell treatment they need
GB Staples, AJC, November 2019
- Comparative analysis of functional assay evidence use by ClinGen Variant Curation Expert Panels.
Kanavy Dona M et al. Genome medicine 2019 Nov 11(1) 77
- Genetic testing preferences and intentions in patients with clinically diagnosed familial hypercholesterolemia.
Wand Hannah et al. Journal of genetic counseling 2019 Nov
- Impact of newborn screening on outcomes and social inequalities in cystic fibrosis: a UK CF registry-based study.
Schlüter Daniela K et al. Thorax 2019 Nov
- International perspectives on the implementation of reproductive carrier screening.
Delatycki Martin B et al. Prenatal diagnosis 2019 Nov
- Crowdsourcing pneumothorax annotations using machine learning annotations on the NIH chest X-ray dataset.
Filice Ross W et al. Journal of digital imaging 2019 Nov
- Screening Human Embryos for Polygenic Traits Has Limited Utility.
Karavani Ehud et al. Cell 2019 Nov 179(6) 1424-1435.e8
- Finding individuals with familial hypercholesterolemia using FIND FH (machine learning and big data)
FH Foundation, youtube video, December 2, 2019
- Polygenic background modifies penetrance of monogenic variants conferring risk for coronary artery disease, breast cancer, or colorectal cancer
AC Fahed et al, MedRXIV, November 29, 2019
- Addressing the diagnostic gaps in pyruvate kinase deficiency: Consensus recommendations on the diagnosis of pyruvate kinase deficiency.
Bianchi Paola et al. American journal of hematology 2019 94(1) 149-161
- Diagnosis and Management of Genetic Iron Overload Disorders.
Palmer William C et al. Journal of general internal medicine 2018 33(12) 2230-2236
- Return of genetic and genomic research findings: experience of a pediatric biorepository.
Papaz Tanya et al. BMC medical genomics 2019 Nov 12(1) 173
- Role play for genetic counseling learning: Value and students perceptions.
Ben Abdelaziz Rim et al. La Tunisie medicale 2019 Mar 97(3) 426-431
- Should we Consider Lipoprotein (a) in Cardiovascular Disease Risk Assessment in Patients with Familial Hypercholesterolaemia?
Anagnostis Panagiotis et al. Current pharmaceutical design 2018 24(31) 3665-3671
- What the Cardiologist Should Know About Mitochondrial Cardiomyopathy?
St-Pierre Guillaume et al. The Canadian journal of cardiology 2019 35(2) 221-224
- Discovery of 318 novel loci for type-2 diabetes and related micro- and macrovascular outcomes among 1.4 million participants in a multi-ethnic meta-analysis.
M Vujkovic et al, BIoRXIV preprints, November 2019
- Diagnosing With a Camera From a Distance—Proceed Cautiously and Responsibly
MP Turakhia, JAMA Cardiology, November 2019
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- Ethical/Legal and Social Issues (ELSI) (55)
Common HLBS Health Topics
- Heart and Vascular Diseases
- Lung Diseases
- Blood Diseases
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Quick Links to Other Resources
Mensah GA, Yu W, Barfield WL, Clyne M, Engelgau MM, Khoury MJ. HLBS-PopOmics: an online knowledge base to accelerate dissemination and implementation of research advances in population genomics to reduce the burden of heart, lung, blood, and sleep disorders. Genet Med. 2018 Sep 10. doi: 10.1038/s41436-018-0118-1
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.